rs869312815

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs869312815(-;C)

Make rs869312815(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

39674672

Gene

PGAP3

is a	snp
is	mentioned by
dbSNP	rs869312815
dbSNP (classic)	rs869312815
ClinGen	rs869312815
ebi	rs869312815
HLI	rs869312815
Exac	rs869312815
Gnomad	rs869312815
Varsome	rs869312815
LitVar	rs869312815
Map	rs869312815
PheGenI	rs869312815
Biobank	rs869312815
1000 genomes	rs869312815
hgdp	rs869312815
ensembl	rs869312815
geneview	rs869312815
scholar	rs869312815
google	rs869312815
pharmgkb	rs869312815
gwascentral	rs869312815
openSNP	rs869312815
23andMe	rs869312815
SNPshot	rs869312815
SNPdbe	rs869312815
MSV3d	rs869312815
GWAS Ctlg	rs869312815

Max Magnitude

0

ClinVar
Risk	rs869312815(C;C)
Alt	rs869312815(C;C)
Reference	Rs869312815(-;-)
Significance	Pathogenic
Disease	Hyperphosphatasia with mental retardation syndrome 4
Variation	info
Gene	PGAP3
CLNDBN	Hyperphosphatasia with mental retardation syndrome 4
Reversed	1
HGVS	NC_000017.10:g.37830926dupG
CLNSRC
CLNACC	RCV000210253.1,